Varaico: Literature-Extracted Genetic Variants

Gene:ERP29

ERP29

37 papers

RefSeq Summary

This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif...

Pfam Domains

ERp29_Naa 33–155UCSCERp29, N-terminal domain
ERp29aa 156–251UCSCEndoplasmic reticulum protein ERp29, C-terminal domain

Gene Aliases

HGNC Name

endoplasmic reticulum protein 29

HGNC Previous Symbol

C12orf8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
5 papers
NM_006817.4
p.C157S
c.469T>A
5 papers
NM_006817.4
p.C157S
c.470G>C
3 papers
NM_006817.4
p.K182R
c.545A>G
2 papers
NM_006817.4
p.D42N
c.124G>A
2 papers
NM_006817.4
p.Y64S
c.191A>C
2 papers
NM_006817.4
p.E220Q
c.658G>C
1 paper
NM_006817.4
p.S12F
c.35C>T
1 paper
NM_006817.4
p.L15F
c.43C>T
1 paper
NM_006817.4
p.L24I
c.70C>A
1 paper
NM_006817.4
p.F60F
c.180C>T
1 paper
NM_006817.4
p.D61A
c.182A>C
1 paper
NM_006817.4
p.Q63E
c.187C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."